Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA249968

Gene: ISCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 183353

ClinVar RCV Id: RCV000162184 RCV000170534 RCV000255374 RCV000310400

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_919255.2:p.Gly77Ser	CA249967 NM_194279.4:c.229G>A